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Article

Prepubertal onset of type 2 diabetes in Shashi-Pena syndrome due to ASXL2 mutation.

American journal of medical genetics. Part A - 1 Sept 2022

Murphy Siobhan A, O'Rourke Niamh E, O'Grady Michael Joseph

Abstract excerpt

Type 2 diabetes remains rare in the pediatric population and the majority of cases occur during puberty. A combination of genetic and environmental factors leads to the development of insulin resistance and β-cell failure. An increased prevalence is recognized in a number of rare genetic disorders such as Alström and Bardet-Biedl syndromes. Recently, a rare neurodevelopmental disorder, Shashi-Pena syndrome due to...

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Identifiers

PMID: 35716351
DOI: 10.1002/ajmg.a.62876

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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